Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys–Dietz syndrome or multiple self-healing squamous epithelioma

Variants in TGFBR1 have been reported to induce two completely distinct diseases, namely Loeys–Dietz syndrome (LDS) and multiple self-healing squamous epithelioma (MSSE). However, detailed mechanisms underlying this effect remain unknown. We report a Japanese familial case of LDS with a novel splice...

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Udgivet i:Eur J Hum Genet
Main Authors: Fujiwara, Takayuki, Takeda, Norifumi, Hara, Hironori, Morita, Hiroyuki, Kishihara, Jun, Inuzuka, Ryo, Yagi, Hiroki, Maemura, Sonoko, Toko, Haruhiro, Harada, Mutsuo, Ikeda, Yuichi, Kumagai, Hidetoshi, Nomura, Seitaro, Takimoto, Eiki, Akazawa, Hiroshi, Ako, Junya, Komuro, Issei
Format: Artigo
Sprog:Inglês
Udgivet: Springer International Publishing 2018
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6057981/
https://ncbi.nlm.nih.gov/pubmed/29706644
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0127-1
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